19
Nov
Balanced chromosomal insertions microstructural abnormalities
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Chromosomal insertions often cause structural abnormalities that result in an overt phenotype and symptoms. However, those who carry balanced insertions can be asymptomatic when disease-causing genes are not disrupted. While the individual may not be affected, the balanced insertion could serve as an underlying mechanism for recurrent familial microstructural abnormalities... Read More
07
Nov
CDO Fall 2020 Newsletter
CDO’s Fall 2020 Newsletter is now available! Each issue contains detailed and new information on rare chromosome disorders. The CDO newsletter includes a family spotlight, additional resources, Ask the Doctor, new research updates and in this issue an excerpt from a new book Raising a Rare Girl by Heather Lanier.... Read More
20
Aug
CDO’s Summer 2020 Newsletter
CDO’s Summer 2020 Newsletter is now available! Each issue contains detailed and new information on rare chromosome disorders. The CDO newsletter includes family stories, additional resources, Ask the Doctor, new research updates and more. To submit an article, story or other item of interest for an upcoming issue email info@chromodisorder.org... Read More
16
Aug
Population prevalence of copy number variants (CNVs)a first glimpse
Estimates of the population prevalence and inheritance patterns of recurrent copy number variants (CNVs) associated with neurodevelopmental disorders are lacking. This article presents a first glimpse. It is well known that chromosome microdeletions or microduplications in several areas (1q21.1, 3q29, 15q11, 15q13, 16p11.2, etc) are associated with a wide range... Read More
